Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
D001483:Base Sequence; D002460:Cell Line; D038921:Coffin-Lowry Syndrome / Q000201:enzymology / Q000235:genetics*; D006367:HeLa Cells; D006801:Humans; D007438:Introns; D017354:Point Mutation; D022821:RNA Splice Sites; D012326:RNA Splicing; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics* / Q000378:metabolism
D022821:RNA Splice Sites; D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3